The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population

1996 ◽  
Vol 155 (3) ◽  
pp. 256-256 ◽  
Author(s):  
C. Szalai ◽  
A. Czinner ◽  
K. Révai
Keyword(s):  
Medium Chain ◽  
Chain Acyl ◽  
Hungarian Population ◽  
G985 Mutation

Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway?

1995 ◽  
Vol 154 (2) ◽  
pp. 166-167 ◽  
Author(s):  
S. H. Opdal ◽  
Å. Vege ◽  
O. D. Saugstad ◽  
T. O. Rognum
Keyword(s):  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Medium Chain ◽  
Chain Acyl ◽  
G985 Mutation

scholarly journals Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

1997 ◽  
Vol 43 (3) ◽  
pp. 436-442 ◽  
Author(s):  
Helen R Seddon ◽  
George Gray ◽  
Rodney J Pollitt ◽  
Antti Iitiä ◽  
Anne Green
Keyword(s):  
Neonatal Screening ◽  
Large Scale ◽  
Mcad Deficiency ◽  
Time Resolved ◽  
Medium Chain ◽  
Chain Acyl ◽  
The Common ◽  
G985 Mutation ◽  
The Uk ◽  
Neonatal Blood Spots

Abstract We have screened 10 171 neonatal blood spots from the Trent and West Midlands regions of the UK for the common G985 mutation to more accurately establish the incidence of medium-chain acyl coenzyme (Co)A dehydrogenase (MCAD) deficiency. We have used a technique involving PCR and Eu-labeled allele-specific oligonucleotides detected by using time-resolved fluorometry on the dissociation-enhanced fluorescence immunoassay (DELFIA) system for the detection of the G985 mutation. We have also evaluated the feasibility of neonatal screening with this technique. We identified 158 G985 heterozygotes and no G985 homozygotes. The calculated incidence of MCAD deficiency in the population studied (all mutations, assuming 90% of MCAD mutations are G985) is 1 in 13 426 (95% confidence limits 1 in 10 070–1 in 18 791). At the optimum cutoff criteria, the technique has a sensitivity of 97.5%, specificity of 99.6%, and positive predictive value of 80.2%. We conclude that this study confirms that MCAD deficiency is a common inherited metabolic disease and is a candidate for neonatal screening. The methodology used is robust and suitable for large-scale population studies such as this. The technique is also potentially suitable for screening.

Sign in / Sign up

Export Citation Format

Share Document